Publication Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.
Publication Do body mass index and waist-to-height ratio over the preceding decade predict retinal microvasculature in 11-12 year olds and midlife adults?
Publication Severe subacute necrotizing encephalopathy (Leigh-like syndrome) in American Staffordshire bull terrier dogs.
Publication 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Publication The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
Publication An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.
